Epidermal growth factor receptor (EGFR) gene Bsr I polymorphism is associated                 with systemic lupus erythematosus

Huang, Chung‐Ming; Tsai, Chang‐Hai; Chen, Chi-Lan; Chang, Chin-Ping; Lai, Chien‐Chen; Tsai, Fuu‐Jen

doi:10.1191/0961203304lu1081oa

Cited by 17 publications

(16 citation statements)

References 25 publications

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“…On the other hand, our analyses of allelic, genotypic and halplotype frequencies suggest that the T allele has a protective effect at rs17337023. Although the study of rs11543848 SNP showed no such risk association (Table 1), the risk association of the rs17337023 SNP in autoimmune diseases was further supported by previous study of our group in identifying the association of rs17337023 SNP with SLE [13]. However, we found that the EGFR polymorphisms have no association with clinical features of RA, which is similar to our previous findings in SLE [13].…”

Section: Discussionsupporting

confidence: 89%

“…Although the study of rs11543848 SNP showed no such risk association (Table 1), the risk association of the rs17337023 SNP in autoimmune diseases was further supported by previous study of our group in identifying the association of rs17337023 SNP with SLE [13]. However, we found that the EGFR polymorphisms have no association with clinical features of RA, which is similar to our previous findings in SLE [13]. Although the exact pathogenic mechanism relating these polymorphisms to these chronic inflammatory diseases still remain unknown, the extremely complex signaling network should be considered in the disease progression.…”

Section: Discussionsupporting

confidence: 62%

“…The EGFR is encoded by a gene located in the short arm of chromosome 7 (7p12.1-12.3) [11]. The EGFR 2133A/T polymorphism (rs17337023) was found to be associated with malignant oral keratinocytes [12], systemic lupus erythematosus (SLE) [13], endometriosis, and leiomyomas [14] in previous studies. Another polymorphism, the EGFR 1808G/A polymorphism (rs11543848) was found to be associated with acute coronary syndrome [15], the prognosis of colorectal carcinoma [16], and advanced lung cancer [17].…”

Section: Introductionmentioning

confidence: 99%

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Association of rheumatoid arthritis risk with EGFR genetic polymorphisms in Taiwan’s Han Chinese population

Wan

Lin

et al. 2011

Rheumatol Int

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The involvement of the epidermal growth factor receptor (EGFR) in the pathogenesis of cancer is well documented. In contrast, its role in rheumatoid arthritis (RA) development is not that well defined although previous studies suggested the possible link between autoimmune diseases and malignancy. Therefore, we aimed to examine whether there is a link between the EGFR genetic polymorphisms and the RA. Our study gauged the effects of EGFR (rs11543848 and rs17337023) single-nucleotide polymorphisms (SNPs) on RA among Taiwan's Han Chinese population. Polymorphism of EGFR gene was analyzed in 188 RA patients and 128 control subjects. Genotyping for EGFR SNPs was performed by restriction fragment length polymorphism (RFLP) assay. Our data confirmed statistically significant increased risk of RA development in subjects with A carrier at rs17337023 SNP (P < 0.0001), and subjects with A allele at rs17337023 SNP (odds ratio [OR] = 1.52; 95% confidence interval [CI] = 1.10-2.09). Furthermore, comparison of haplotype frequencies between patients and controls suggested GA and AT haplotypes were more "at-risk" for RA development (P < 0.0001 and P < 0.01, respectively). However, comparisons of the clinical features of RA patients according to different genotypes and haplotypes revealed no significant difference. In conclusion, our data yield the new information on EGFR polymorphisms (rs11543848 and rs17337023) with the susceptibility of RA development and polymorphism revealed by this study merit further investigation.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionsupporting

confidence: 62%

Section: Introductionmentioning

confidence: 99%

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Association of rheumatoid arthritis risk with EGFR genetic polymorphisms in Taiwan’s Han Chinese population

Wan

Lin

et al. 2011

Rheumatol Int

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“…EGFR has been found to be the predominantly expressed receptor in synovial fibroblasts (78). It has been shown that the EGFR 2133A/T polymorphism (rs17337023) was associated with malignant oral keratinocytes (Shintani et al ., ), SLE (Huang et al ., ), endometriosis and leiomyomas (Hsieh et al ., ). To the best of our knowledge, there is only one report regarding the association between EGFR polymorphisms and RA (Lo et al ., ).…”

Section: Introductionmentioning

confidence: 99%

Association of PTPN22 rs2476601 and EGFR rs17337023 Gene polymorphisms and rheumatoid arthritis in Zahedan, Southeast Iran

Hashemi

Atabaki

Daneshvar

et al. 2013

Int J Immunogenetics

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In this study we aimed to evaluate the possible association of PTPN22 rs2476601 as well as epidermal growth factor receptor (EGFR) rs17337023 gene polymorphism and rheumatoid arthritis (RA) in a sample of Iranian population. This case-control study was performed on 120 patients with RA and 120 healthy subjects. Genomic DNA was extracted from whole blood and PTPN22 rs2476601 and EGFR rs17337023 polymorphisms were determined using tetra amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR). The results showed that PTPN22 rs2476601 CT genotype as well as rs2476601 T allele was a risk factor for susceptibility to RA (OR=5.89 95%CI = 1.78-19.48, P = 0.004 and OR = 4.78, 95%CI = 1.59-14.35, P = 0.003, respectively). We also found that EGFR rs17337023 AT and rs17337023 TT genotypes were risk factor for susceptibility to RA (OR = 9.94 95%CI = 3.65-26.73, P < 0.001 and OR = 3.66, 95%CI = 1.46-9.15, P = 0.005, respectively). In addition the EGFR rs17337023 T allele was a risk for predisposition to RA (OR = 1.56, 95%CI=1.06-2.30, P = 0.030). In conclusion, we found an association between PTPN22 rs2476601 and EGFR rs17337023 polymorphisms and the risk of RA in a sample of Iranian population.

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“…In particular, some autoimmune diseases associated with bridge proteins are found to be related to BLADs. Specifically, EGFR which interacts with SH2B3 associated with APS ( Supplementary Figure 2 ), is related to systemic lupus erythematosus (SLE) (88). Surprisingly, an increasing number of studies (89–91) have found APS in patients with SLE.…”

Section: Discussionmentioning

confidence: 99%

Visualization and Analysis of the Interaction Network of Proteins Associated with Blood-cell targeting Autoimmune Diseases

Amanatidou

Nastou

Tsitsilonis

et al. 2019

Preprint

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Blood-cell targeting Autoimmune Diseases (BLADs) are complex diseases that affect blood cell formation or prevent blood cell production. Since these clinical conditions are gathering growing attention, experimental approaches are being used to investigate the mechanisms behind their pathogenesis and to identify proteins associated with them. However, computational approaches have not been utilized extensively in the study of BLADs. This study aims to investigate the interaction network of proteins associated with BLADs (BLAD interactome) and to identify novel associations with other human proteins. The method followed in this study combines information regarding protein-protein interaction network properties and autoimmune disease terms. Proteins with high network scores and statistically significant autoimmune disease term enrichment were obtained and 14 of them were designated as candidate proteins associated with BLADs. Additionally, clustering analysis of the BLAD interactome was used and allowed the detection of 17 proteins that act as "connectors" of different BLADs. We expect our findings to further extend experimental efforts for the investigation of the pathogenesis and the relationships of BLADs.

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Epidermal growth factor receptor (EGFR) gene Bsr I polymorphism is associated with systemic lupus erythematosus

Cited by 17 publications

References 25 publications

Association of rheumatoid arthritis risk with EGFR genetic polymorphisms in Taiwan’s Han Chinese population

Association of rheumatoid arthritis risk with EGFR genetic polymorphisms in Taiwan’s Han Chinese population

Association of PTPN22 rs2476601 and EGFR rs17337023 Gene polymorphisms and rheumatoid arthritis in Zahedan, Southeast Iran

Visualization and Analysis of the Interaction Network of Proteins Associated with Blood-cell targeting Autoimmune Diseases

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